254023004: Congenital abnormality of skull shape (disorder)

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

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

\Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Congenital abnormality of skull shape
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Congenital abnormality of skull shape
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Congenital abnormality of skull shape
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape

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

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 shape	Is a	Congenital abnormality of skull and face bones (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull shape	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull shape	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of skull shape	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of skull shape	Is a	Congenital anomaly of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormality of skull shape	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital abnormality of skull shape	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormality of skull shape	Associated morphology	Abnormal shape (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachycephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Overriding skull bones	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Plagiocephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Trigonocephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital depression in skull	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Cranioschisis	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Long narrow head (disorder)	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Leptocephaly	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Domed head	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Skull congenital deformities	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Bathrocephaly (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of basioccipital bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of palatine bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of nasal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of parietal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of alisphenoid bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of maxilla (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of frontal bone (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of squamosal bone (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of zygomatic bone (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of exoccipital bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal shape of interparietal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deformity of wall of nasal sinus	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial scaphocephaly syndrome McGillivray type (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital positional plagiocephaly	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital plagiocephaly with pelvic obliquity (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniosynostosis Philadelphia type (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deformity of bony orbit	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital expansion of orbit	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital combined bony and soft tissue deformity of orbit (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital contraction of orbit	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378161014	Congenital abnormality of skull shape	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644857012	Congenital abnormality of skull shape (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378161014	Congenital abnormality of skull shape	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378161014	Congenital abnormality of skull shape	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644857012	Congenital abnormality of skull shape (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644857012	Congenital abnormality of skull shape (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081201000241118	anomalie congénitale de la forme du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081201000241118	anomalie congénitale de la forme du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module