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722283003: syndrome d'agnathie-holoprosencéphalie-situs inversus (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
3331427010 Agnathia, holoprosencephaly, situs inversus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331429013 Agnathia, holoprosencephaly, situs inversus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758501000241118 syndrome d'agnathie-holoprosencéphalie-situs inversus (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
944991000172113 syndrome d'agnathie-holoprosencéphalie-situs inversus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3331430015 An extremely rare and fatal association syndrome with characteristics of absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline, agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. 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
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule true Inferred relationship Some 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) holoprosencéphalie (trouble) true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) Congenital micrognathism true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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