Hypochondrogenesis (Q46594): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Condição causada pela falha do sistema esquelético em se desenvolver corretamente durante o período pré-natal, devido à mutação do gene COL2A1. Esta condição é caracterizada por um corpo pequeno, membros curtos, pulmões subdesenvolvidos, face plana e oval, hipertelorismo, micrognatia, abdômen aumentado e ossificação em coluna e pelve. Essa condição também pode se apresentar com fenda palatina.
@@ description / en / description / en @@
+A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1494246635
@@ Property / Canonical URI: https://id.who.int/icd/entity/1494246635 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:LD24.51
@@ Property / CURIE: CID11:LD24.51 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-LD24.51
@@ Property / Canary Token: dki-india-LD24.51 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+ICD I228
@@ Property / Linked ICD 10: ICD I228 / rank @@
+Normal rank

Latest revision as of 15:16, 13 August 2026

A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.

Language	Label	Description	Also known as
default for all languages	LD24.51
English	Hypochondrogenesis	A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.