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716169009: Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304951014 Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304952019 Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304953012 Morse Rawnsley Sargent syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304954018 An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested. 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
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) Inherited arthrogryposis true Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) localisation d'une constatation (attribut) Structure of central nervous system (body structure) true Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) interprète (attribut) Range of joint movement true Inferred relationship Some 4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) holoprosencéphalie (trouble) true Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) Arthrogryposis false Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) Congenital anomaly of central nervous system true Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) false Inferred relationship Some 5
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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