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720494009: Anonychia with microcephaly syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3321016010 Anonychia with microcephaly syndrome en Synonym Active Case insensitive SNOMED CT core
3321017018 Teebi Kaurah syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anonychia with microcephaly syndrome Occurrence Congenital true Inferred relationship Some 1
Anonychia with microcephaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Anonychia with microcephaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Anonychia with microcephaly syndrome Associated morphology Congenital absence false Inferred relationship Some 1
Anonychia with microcephaly syndrome Finding site Nail unit structure true Inferred relationship Some 1
Anonychia with microcephaly syndrome Is a Genetic disorder of nail true Inferred relationship Some
Anonychia with microcephaly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Anonychia with microcephaly syndrome Associated morphology Absence true Inferred relationship Some 1
Anonychia with microcephaly syndrome Is a Congenital microcephaly true Inferred relationship Some
Anonychia with microcephaly syndrome Finding site Structure of head true Inferred relationship Some 2
Anonychia with microcephaly syndrome Has interpretation Below reference range true Inferred relationship Some 3
Anonychia with microcephaly syndrome Interprets Birth head circumference true Inferred relationship Some 3
Anonychia with microcephaly syndrome Is a Microcephalus false Inferred relationship Some
Anonychia with microcephaly syndrome Is a Anonychia true Inferred relationship Some
Anonychia with microcephaly syndrome Is a Congenital anomaly of brain false Inferred relationship Some
Anonychia with microcephaly syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Anonychia with microcephaly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Anonychia with microcephaly syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Anonychia with microcephaly syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Anonychia with microcephaly syndrome Associated morphology Congenital smallness true Inferred relationship Some 2
Anonychia with microcephaly syndrome Occurrence Congenital true Inferred relationship Some 2
Anonychia with microcephaly syndrome Finding site Brain structure false Inferred relationship Some 2
Anonychia with microcephaly syndrome Occurrence Congenital false Inferred relationship Some 3
Anonychia with microcephaly syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Anonychia with microcephaly syndrome Finding site Nail structure false Inferred relationship Some 2
Anonychia with microcephaly syndrome Associated morphology Congenital smallness false Inferred relationship Some 3
Anonychia with microcephaly syndrome Finding site Brain structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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