766884000: Familial lambdoid synostosis (disorder)

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

\Finding of head and neck region\Head finding (finding)\...

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis

\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Genetic disease\Familial lambdoid synostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Familial disease\Familial lambdoid synostosis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Parieto-occipital craniosynostosis\Familial lambdoid synostosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3663012010 Familial lambdoid synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663013017 Familial lambdoid synostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663016013 A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4148181000052116 familjär lambdoideasynostos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial lambdoid synostosis	Is a	Parieto-occipital craniosynostosis	true	Inferred relationship	Some
Familial lambdoid synostosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Familial lambdoid synostosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial lambdoid synostosis	Is a	Familial disease	true	Inferred relationship	Some
Familial lambdoid synostosis	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
Familial lambdoid synostosis	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
Familial lambdoid synostosis	Finding site	Structure of lambdoid suture of skull	true	Inferred relationship	Some	1
Familial lambdoid synostosis	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Familial lambdoid synostosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Familial lambdoid synostosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial lambdoid synostosis	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Familial lambdoid synostosis	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3663012010	Familial lambdoid synostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663013017	Familial lambdoid synostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663016013	A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4148181000052116	familjär lambdoideasynostos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)