254026007: Craniofacial microsomia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Facial appearance finding\Finding of proportion of face\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia

\Musculoskeletal finding\Musculoskeletal asymmetry (finding)\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital facial asymmetry\Craniofacial microsomia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Facial asymmetry\Congenital facial asymmetry\Craniofacial microsomia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378165017 Craniofacial microsomia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644861018 Craniofacial microsomia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5081241000241115 microsomie craniofaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofacial microsomia	Is a	Congenital anomaly of face bones	false	Inferred relationship	Some
Craniofacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Craniofacial microsomia	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Craniofacial microsomia	Occurrence	Congenital	false	Inferred relationship	Some
Craniofacial microsomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Craniofacial microsomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Craniofacial microsomia	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Craniofacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Craniofacial microsomia	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Craniofacial microsomia	Occurrence	Congenital	false	Inferred relationship	Some	2
Craniofacial microsomia	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Craniofacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	2
Craniofacial microsomia	Occurrence	Congenital	false	Inferred relationship	Some	3
Craniofacial microsomia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Craniofacial microsomia	Finding site	Bone structure of face	false	Inferred relationship	Some	3
Craniofacial microsomia	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniofacial microsomia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Craniofacial microsomia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Craniofacial microsomia	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Craniofacial microsomia	Finding site	Bone structure of head	true	Inferred relationship	Some	1
Craniofacial microsomia	Is a	Congenital facial asymmetry	true	Inferred relationship	Some
Craniofacial microsomia	Interprets	Facial appearance	true	Inferred relationship	Some	2
Craniofacial microsomia	Finding site	Face structure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Antley-Bixler syndrome	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Bilateral craniofacial microsomia	Is a	True	Craniofacial microsomia	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Hemifacial microsomia	Is a	True	Craniofacial microsomia	Inferred relationship	Some
Congenital micrognathism	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of palatine bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of zygomatic bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital alveolar hypoplasia of mandible	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Goldenhar syndrome	Is a	True	Craniofacial microsomia	Inferred relationship	Some
Congenital maxillary hypoplasia	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of nasal bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of alisphenoid bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of basioccipital bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of exoccipital bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of frontal bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of interparietal bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of lacrimal bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of parietal bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Congenital hypoplasia of squamosal bone	Is a	False	Craniofacial microsomia	Inferred relationship	Some
Facio-auriculo-vertebral spectrum (disorder)	Is a	True	Craniofacial microsomia	Inferred relationship	Some
First and second branchial arch syndrome	Is a	True	Craniofacial microsomia	Inferred relationship	Some
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.	Is a	True	Craniofacial microsomia	Inferred relationship	Some
Otomandibular dysostosis	Is a	True	Craniofacial microsomia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378165017	Craniofacial microsomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644861018	Craniofacial microsomia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081241000241115	microsomie craniofaciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module