784381008: Autosomal recessive cutis laxa type 2A (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 2A

\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 2A

\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 2A
\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 2A

\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 2A

\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 2A
\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 2A
\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 2A

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
\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 2A
\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 2A
\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 2A
\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 2A
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
\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 2A
\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 2A
\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 2A
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Autosomal recessive cutis laxa type 2A
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
\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 2A
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal recessive cutis laxa type 2A
\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 2A
\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 2A
\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 2A
\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 2A
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Autosomal recessive cutis laxa type 2A
\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 2A
\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 2A
\Disease\Metabolic disease\Metabolic bone disease\Autosomal recessive cutis laxa type 2A
\Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
\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 2A
\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 2A
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A
\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 2A

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

Descriptions:

Id Description Lang Type Status Case? Module

3763865018 ARCL2A - autosomal recessive cutis laxa type 2A en Synonym Active Case sensitive SNOMED CT core

3763866017 Autosomal recessive cutis laxa type 2A (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3763867014 Autosomal recessive cutis laxa type 2A en Synonym Active Initial character case insensitive SNOMED CT core

3763868016 A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. 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 2A	Is a	Metabolic bone disease	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A	Finding site	Skin structure	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2A	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2A	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A	Is a	Cutis laxa, recessive, type II	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2A	Finding site	Connective tissue structure	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A	Interprets	Bone density scan	true	Inferred relationship	Some	4
Autosomal recessive cutis laxa type 2A	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2A	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Autosomal recessive cutis laxa type 2A	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2A	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2A	Finding site	Bone structure	true	Inferred relationship	Some	1

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
3763865018	ARCL2A - autosomal recessive cutis laxa type 2A	en	Synonym	Active	Case sensitive	SNOMED CT core
3763866017	Autosomal recessive cutis laxa type 2A (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3763867014	Autosomal recessive cutis laxa type 2A	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763868016	A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.	en	Definition	Active	Case sensitive	SNOMED CT core