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1345054009: Congenital unilateral hypoplasia of depressor anguli oris (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5389769011 Isolated ACF (asymmetric crying facies) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5389770012 Isolated asymmetric crying facies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5389771011 Congenital unilateral hypoplasia of depressor anguli oris (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5389772016 Congenital unilateral hypoplasia of depressor anguli oris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5389778017 A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5389779013 A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5389769011 Isolated ACF (asymmetric crying facies) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5389770012 Isolated asymmetric crying facies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5389771011 Congenital unilateral hypoplasia of depressor anguli oris (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5389772016 Congenital unilateral hypoplasia of depressor anguli oris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5389778017 A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5389779013 A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. 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
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Hypoplasia of muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Congenital anomaly of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Finding site Depressor anguli oris muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a Disorder of soft tissue of head (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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