778068007: Autosomal recessive cutis laxa type 2B (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B

\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B

\General finding of soft tissue\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\Integumentary system finding\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism\Autosomal recessive cutis laxa type 2B
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Metabolic disease\Metabolic bone disease\Autosomal recessive cutis laxa type 2B
\Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2B
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2B
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal recessive cutis laxa type 2B

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737618018 Autosomal recessive cutis laxa type 2B en Synonym Active Initial character case insensitive SNOMED CT core

3737619014 Autosomal recessive cutis laxa type 2B (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3737620015 Autosomal recessive cutis laxa type 2 progeroid type en Synonym Active Case insensitive SNOMED CT core

3737621016 ARCL2B - autosomal recessive cutis laxa type 2B en Synonym Active Case sensitive SNOMED CT core

3737622011 A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive cutis laxa type 2B	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Is a	Metabolic bone disease	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2B	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2B	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2B	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Is a	Cutis laxa, recessive, type II	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Finding site	Skin structure	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2B	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Finding site	Connective tissue structure	false	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Autosomal recessive cutis laxa type 2B	Interprets	Bone density scan	true	Inferred relationship	Some	4
Autosomal recessive cutis laxa type 2B	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2B	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2B	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2B	Is a	Congenital anomaly of skin	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737618018	Autosomal recessive cutis laxa type 2B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3737619014	Autosomal recessive cutis laxa type 2B (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3737620015	Autosomal recessive cutis laxa type 2 progeroid type	en	Synonym	Active	Case insensitive	SNOMED CT core
3737621016	ARCL2B - autosomal recessive cutis laxa type 2B	en	Synonym	Active	Case sensitive	SNOMED CT core
3737622011	A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	en	Definition	Active	Case sensitive	SNOMED CT core