716091000: Holoprosencephaly and postaxial polydactyly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Congenital anomaly of limb\Polymelia\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Holoprosencephaly and postaxial polydactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304697013	Holoprosencephaly and postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304698015	Holoprosencephaly and postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304699011	Pseudotrisomy 13 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304700012	Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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