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722283003: Agnathia, holoprosencephaly, situs inversus 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
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
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) Is a Holoprosencephaly sequence true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site Bone structure of mandible 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) Associated morphology Hypoplasia true Inferred relationship Some 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site Face structure 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) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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