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720494009: Anonychia 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
3321015014 Anonychia with microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321016010 Anonychia with microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321017018 Teebi Kaurah syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321018011 A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anonychia with microcephaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Congenital microcephaly (disorder) true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) microcéphalie false Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Anonychia true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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