720498007: Aphalangy and syndactyly with microcephaly 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)\...
• \Syndactyly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Aphalangy and syndactyly with microcephaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321032013	Aphalangy and syndactyly with microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321033015	Aphalangy and syndactyly with microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321034014	An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	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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