59178007: Menkes kinky-hair syndrome (disorder)

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

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Menkes kinky-hair syndrome

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

\Hair finding\Disorder of hair\Menkes kinky-hair syndrome

\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Menkes kinky-hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome

\General finding of observation of patient\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Menkes kinky-hair syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Menkes kinky-hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Menkes kinky-hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Menkes kinky-hair syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Menkes kinky-hair syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Menkes kinky-hair syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Menkes kinky-hair syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Menkes kinky-hair syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Menkes kinky-hair syndrome
\Disease\Degenerative disorder\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\System disorder of the nervous system (disorder)\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Metabolic disease\Metabolic bone disease\Menkes kinky-hair syndrome
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of copper metabolism\Menkes kinky-hair syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Menkes kinky-hair syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Menkes kinky-hair syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Menkes kinky-hair syndrome	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Hypocupremia	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	sjukdom i hår och/eller hårfollikel	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Collagen and elastic tissue disorders affecting skin	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	System disorder of the nervous system (disorder)	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Finding site	Hair structure	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Congenital anomaly of hair	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Is a	Metabolic bone disease	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Disorder of copper metabolism	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Disorder of hair	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	sjukdom i hår och/eller hårfollikel	false	Inferred relationship	Some
Menkes kinky-hair syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	3
Menkes kinky-hair syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Menkes kinky-hair syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome	Finding site	Bone structure	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	Degenerative disorder	true	Inferred relationship	Some
Menkes kinky-hair syndrome	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
98318012	Menkes kinky-hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98319016	Menkes disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98320010	Congenital hypocupremia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98321014	X-linked copper deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98322019	Copper transport disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98324018	Trichopoliodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
198876012	Steely hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
198877015	Menkes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
198878013	Kinky hair disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498366018	Congenital hypocupraemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498367010	MK - Menkes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498368017	MNK - Menkes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498369013	Steely hair disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498370014	Menke's kinky hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
797991018	Menkes kinky-hair syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
845911000052115	Menkes syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)