268239009: Congenital abnormality of skull and face bones (disorder)

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

\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones

\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
\Musculoskeletal finding\Disorder of musculoskeletal system\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Disease\Disorder of body system\Disorder of musculoskeletal system\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Congenital abnormality of skull and face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Occurrence	Congenital	false	Inferred relationship	Some
Congenital abnormality of skull and face bones	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital abnormality of skull and face bones	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital abnormality of skull and face bones	Finding site	Bone structure of head	false	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Finding site	Bone structure of head	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleft lip and cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Craniofacial cleft (disorder)	Is a	False	Congenital abnormality of skull and face bones	Inferred relationship	Some
Craniofacial microsomia	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
Agenesis of premaxilla (disorder)	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical.	Is a	True	Congenital abnormality of skull and face bones	Inferred relationship	Some

Start Page 2 of 2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
400879019	Congenital abnormality of skull and face bones	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
400880016	Skull and face bone anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660955018	Congenital abnormality of skull and face bones (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2241291000005115	Kongenit abnormitet af kranie- og ansigtsknogler	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)