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719812008: syndrome de déficience intellectuelle liée à l'X-plagiocéphalie (trouble)


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
3317997014 X-linked intellectual disability with plagiocephaly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317998016 X-linked intellectual disability with plagiocephaly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317999012 Hyde Forster McCarthy Berry syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
754841000241113 syndrome de déficience intellectuelle liée à l'X-plagiocéphalie (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
951391000172112 syndrome de déficience intellectuelle liée à l'X-plagiocéphalie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
956401000172119 syndrome de Hyde Forster-McCarthy-Berry fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3318000018 This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. 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
X-linked intellectual disability with plagiocephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability with plagiocephaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) anomalie congénitale du crâne (trouble) false Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) morphologie associée (attribut) Deformity true Inferred relationship Some 1
X-linked intellectual disability with plagiocephaly syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 1
X-linked intellectual disability with plagiocephaly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Congenital abnormality of skull shape true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Plagiocephaly true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) affection congénitale du tissu conjonctif false Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) morphologie associée (attribut) Deformity false Inferred relationship Some 3
X-linked intellectual disability with plagiocephaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
X-linked intellectual disability with plagiocephaly syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 3
X-linked intellectual disability with plagiocephaly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
X-linked intellectual disability with plagiocephaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
X-linked intellectual disability with plagiocephaly syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 4
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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