254023004: Congenital abnormality of skull shape (disorder)

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

\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\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\Congenital anomaly of skull\Congenital abnormality of skull shape

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

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

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

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

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	false	Inferred relationship	Some
Congenital abnormality of skull shape	Occurrence	Congenital	false	Inferred relationship	Some
Congenital abnormality of skull shape	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Congenital abnormality of skull shape	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital abnormality of skull shape	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital abnormality of skull shape	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Congenital abnormality of skull shape	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital abnormality of skull shape	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital abnormality of skull shape	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Congenital abnormality of skull shape	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	2
Congenital abnormality of skull shape	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	1
Congenital abnormality of skull shape	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital abnormality of skull shape	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital abnormality of skull shape	Associated morphology	Abnormal shape (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachycephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Overriding skull bones	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Plagiocephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Trigonocephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital depression in skull	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Cranioschisis	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Long narrow head	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Leptocephaly	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Domed head	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Skull congenital deformities	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Bathrocephaly	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of basioccipital bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of palatine bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of nasal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of parietal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of alisphenoid bone (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of maxilla	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of frontal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of squamosal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of zygomatic bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of exoccipital bone (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital abnormal shape of interparietal bone	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Is a	False	Congenital abnormality of skull shape	Inferred relationship	Some
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, 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	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital positional plagiocephaly	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital plagiocephaly with pelvic obliquity (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital deformity of bony orbit	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital expansion of orbit	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital combined bony and soft tissue deformity of orbit (disorder)	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some
Congenital contraction of orbit	Is a	True	Congenital abnormality of skull shape	Inferred relationship	Some

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
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