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62250003: Arachnodactyly (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Arachnodactyly
\Deformity (finding)\Congenital deformity\Arachnodactyly

\Finding of limb structure\Deformity of limb (finding)\Arachnodactyly
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity\Arachnodactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arachnodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arachnodactyly	Is a	Congenital abnormal shape of digit	true	Inferred relationship	Some
Arachnodactyly	Is a	Congenital anomaly of hand (disorder)	false	Inferred relationship	Some
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Finding site	Structure of all fingers	false	Inferred relationship	Some	1
Arachnodactyly	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some
Arachnodactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Arachnodactyly	Associated morphology	kongenit abnorm form	false	Inferred relationship	Some	2
Arachnodactyly	Occurrence	Congenital	false	Inferred relationship	Some
Arachnodactyly	Associated morphology	dysgenese	false	Inferred relationship	Some
Arachnodactyly	Finding site	Structure of all toes	false	Inferred relationship	Some	2
Arachnodactyly	Is a	Congenital anomaly of toe	false	Inferred relationship	Some
Arachnodactyly	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Arachnodactyly	Is a	Congenital deformity of foot	false	Inferred relationship	Some
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Finding site	Finger structure	false	Inferred relationship	Some	2
Arachnodactyly	Is a	Congenital anomaly of finger	false	Inferred relationship	Some
Arachnodactyly	Is a	Congenital anomaly of foot	false	Inferred relationship	Some
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Is a	Disorder of musculoskeletal system	false	Inferred relationship	Some
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	3
Arachnodactyly	Is a	Congenital macrodactyly (disorder)	false	Inferred relationship	Some
Arachnodactyly	Is a	Finding of musculoskeletal structure of digit of hand	false	Inferred relationship	Some
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Arachnodactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Arachnodactyly	Occurrence	Congenital	false	Inferred relationship	Some	3
Arachnodactyly	Finding site	Digit structure	false	Inferred relationship	Some	3
Arachnodactyly	Is a	Congenital anomaly of digit (disorder)	false	Inferred relationship	Some
Arachnodactyly	Is a	Congenital deformity	true	Inferred relationship	Some
Arachnodactyly	Is a	Deformity of limb (finding)	true	Inferred relationship	Some
Arachnodactyly	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	3
Arachnodactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Arachnodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Arachnodactyly	Associated morphology	Abnormally long and slender growth	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital contractural arachnodactyly	Is a	True	Arachnodactyly	Inferred relationship	Some
objektivt: araknodaktyli-hænder	Associated finding	False	Arachnodactyly	Inferred relationship	Some	1
objektivt: araknodaktyli-hænder	Is a	False	Arachnodactyly	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Is a	True	Arachnodactyly	Inferred relationship	Some
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	Is a	True	Arachnodactyly	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.	Is a	True	Arachnodactyly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
103454012	Arachnodactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103455013	Spider finger	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103456014	Dolichostenomelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499232016	Congenital arachnodactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801401013	Arachnodactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1425421000005115	Araknodaktyli	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)