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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
5402872010 An extremely rare and fatal association syndrome, characterized by 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 (otocephaly), 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
5402873017 An extremely rare and fatal association syndrome, characterised by 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 (otocephaly), 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
3331427010 Agnathia, holoprosencephaly, situs inversus syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402872010 An extremely rare and fatal association syndrome, characterized by 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 (otocephaly), 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
5402873017 An extremely rare and fatal association syndrome, characterised by 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 (otocephaly), 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
3417941001000114 Agnathie-Holoprosenzephalie-Situs inversus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944991000172113 syndrome d'agnathie-holoprosencéphalie-situs inversus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944991000172113 syndrome d'agnathie-holoprosencéphalie-situs inversus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417941001000114 Agnathie-Holoprosenzephalie-Situs inversus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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