268262006: Acrocephalosyndactyly (disorder)

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

\Head finding (finding)\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly

\Finding of limb structure (finding)\Disorder of limb\...

\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly

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

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Genetic disease\Acrocephalosyndactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Acrocephalosyndactyly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly	Is a	Multisystem disorder A-B	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Is a	Multiple congenital malformations	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Is a	Congenital malformation syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Is a	Syndactyly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrocephalosyndactyly	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly	Associated morphology	Premature fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalosyndactyly type I	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly (Pfeiffer)	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly (disorder)	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder)	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniosynostosis Philadelphia type (disorder)	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Saethre-Chotzen syndrome	Is a	True	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
syndrome de Summitt	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Is a	False	Acrocephalosyndactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Jackson-Weiss syndrome (disorder)	Is a	True	Acrocephalosyndactyly	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
400910012	Acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660982014	Acrocephalosyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
400910012	Acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
400910012	Acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
400911011	Apert's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
660982014	Acrocephalosyndactyly (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
660982014	Acrocephalosyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
651801000274119	Akrozephalosyndaktylie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
81001000077112	acrocéphalosyndactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
885581000172119	acro-céphalo-syndactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999081000172119	ACS - acro-céphalo-syndactylie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
81001000077112	acrocéphalosyndactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
885581000172119	acro-céphalo-syndactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999081000172119	ACS - acro-céphalo-syndactylie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
651801000274119	Akrozephalosyndaktylie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421871001000113	Akranie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module