268262006: Acrocephalosyndactyly (disorder)

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

\Head finding (finding)\Cranial suture 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\Disorder of limb (disorder)\...

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

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

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

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

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

4314601000005115 akrocefalosyndaktyli da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrocephalosyndactyly	Is a	Multisystem disorder A-B	false	Inferred relationship	Some
Acrocephalosyndactyly	Is a	multisystemsygdom	false	Inferred relationship	Some
Acrocephalosyndactyly	Is a	Multiple kongenitte misdannelser	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Acrocephalosyndactyly	Occurrence	Congenital	false	Inferred relationship	Some	3
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Acrocephalosyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Associated morphology	kongenit præmatur sammenvoksning	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Acrocephalosyndactyly	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Acrocephalosyndactyly	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	kongenit præmatur sammenvoksning	false	Inferred relationship	Some	3
Acrocephalosyndactyly	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Acrocephalosyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	1
Acrocephalosyndactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acrocephalosyndactyly	Is a	Genetic disease	true	Inferred relationship	Some
Acrocephalosyndactyly	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Acrocephalosyndactyly	Associated morphology	Premature fusion	true	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	Fusion that has occurred in a structure that is not normally fused.	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalosyndactyly type I	Is a	True	Acrocephalosyndactyly	Inferred relationship	Some
akrocefalosyndaktyli Pfeiffers type	Is a	False	Acrocephalosyndactyly	Inferred relationship	Some
Acrocephalopolysyndactyly	Is a	True	Acrocephalosyndactyly	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	True	Acrocephalosyndactyly	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	False	Acrocephalosyndactyly	Inferred relationship	Some
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized 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	Some
Saethre-Chotzen syndrome	Is a	True	Acrocephalosyndactyly	Inferred relationship	Some
Summitt syndrome	Is a	False	Acrocephalosyndactyly	Inferred relationship	Some
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Is a	False	Acrocephalosyndactyly	Inferred relationship	Some
Jackson-Weiss syndrome	Is a	True	Acrocephalosyndactyly	Inferred relationship	Some

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
4314601000005115	akrocefalosyndaktyli	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)