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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head\Isolated asymmetric crying facies
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Isolated asymmetric crying facies
• \Disorder of skeletal muscle\Hypoplasia of muscle\Isolated asymmetric crying facies
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...
• \Hypoplasia of muscle\Isolated asymmetric crying facies
• \Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Isolated asymmetric crying facies
• \Disorder of skeletal muscle\Hypoplasia of muscle\Isolated asymmetric crying facies
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Isolated asymmetric crying facies
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated asymmetric crying facies
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Isolated asymmetric crying facies
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Isolated asymmetric crying facies
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Isolated asymmetric crying facies
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Hypoplasia of muscle\Isolated asymmetric crying facies
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Hypoplasia of muscle\Isolated asymmetric crying facies
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Isolated asymmetric crying facies
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Isolated asymmetric crying facies
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Hypoplasia of muscle\Isolated asymmetric crying facies
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies
• \Disease\Developmental disorder\Developmental hereditary disorder\Isolated asymmetric crying facies
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Isolated asymmetric crying facies
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Isolated asymmetric crying facies

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

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Reference Sets

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

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