FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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
5402357016 A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402358014 A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. 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) Is a Microcephalus false Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Anonychia true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Finding site Brain structure false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Finding site Nail structure false Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) Finding site Brain structure false Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) Occurrence Congenital 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) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Finding site Head structure true Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start