1187115008: Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4669928018 Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4669929014 Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Hypertrichosis	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Polydactyly	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4669928018	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4669929014	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module