57219006: Craniosynostosis syndrome (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

\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis syndrome	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Craniosynostosis syndrome	Is a	Congenital abnormality of skull and face bones	false	Inferred relationship	Some
Craniosynostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Craniosynostosis syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Craniosynostosis syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Craniosynostosis syndrome	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Craniosynostosis syndrome	Is a	Cranial suture finding	false	Inferred relationship	Some
Craniosynostosis syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Craniosynostosis syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Craniosynostosis syndrome	Is a	Congenital malformation	false	Inferred relationship	Some
Craniosynostosis syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	1
Craniosynostosis syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	1
Craniosynostosis syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniosynostosis syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Craniosynostosis syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	1
Craniosynostosis syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Craniosynostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Craniosynostosis syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Craniosynostosis syndrome	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Craniosynostosis syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	3
Craniosynostosis syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Craniosynostosis syndrome	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Craniosynostosis syndrome	Is a	Lesion of joint	false	Inferred relationship	Some
Craniosynostosis syndrome	Is a	Imperfect fusion of skull	true	Inferred relationship	Some
Craniosynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniosynostosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Interfrontal craniofaciosynostosis	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Fronto-parietal craniofaciosynostosis	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Fronto-malar faciosynostosis	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Parieto-occipital craniosynostosis	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Interparietal craniosynostosis (disorder)	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Unicoronal craniosynostosis	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Bicoronal craniosynostosis	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Cloverleaf skull syndrome	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Schprintzen	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Crouzon syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Apert's syndrome	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Acrocephaly	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Carpenter's syndrome	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Complex craniosynostosis	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Simple craniosynostosis	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Acrocephalosyndactyly	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Jackson-Weiss syndrome	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Acrobrachycephaly	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Pseudoaminopterin syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniofacial dyssynostosis syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Capra DeMarco syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Hunter McAlpine craniosynostosis syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type (disorder)	Is a	False	Craniosynostosis syndrome	Inferred relationship	Some
Craniomicromelic syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
SCARF syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis Herrmann Opitz type (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis and dental anomalies syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Trigonocephaly	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniorhiny (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Long narrow head	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis Philadelphia type (disorder)	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Curry Jones syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome	Is a	True	Craniosynostosis syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
95171016	Craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95172011	Craniostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95173018	Craniosynostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95174012	Premature closure of cranial sutures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95175013	Congenital ossification of cranial sutures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95176014	Congenital ossification of sutures of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95177017	Craniostenosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795817015	Craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231700010	CSO - Craniosynostosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231701014	Premature cranial suture closure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3390939017	Syndrome de craniosynostose	fr	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
88261000172117	craniosténose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
466731000172113	syndrome de craniosynostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
506041000172111	craniosynostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module