716091000: Holoprosencephaly and postaxial polydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Congenital anomaly of limb\Polymelia\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Holoprosencephaly and postaxial polydactyly syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3304698015	Holoprosencephaly and postaxial polydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304699011	Pseudotrisomy 13 syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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