874931001: Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

\Functional finding\Abnormal keratinization\Disorder of keratinization\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans 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\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Developmental delay\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3983331015 Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3983332010 Severe achondroplasia, developmental delay, acanthosis nigricans syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3983333017 SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Achondroplasia	true	Inferred relationship	Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Functional finding	false	Inferred relationship	Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Acanthosis nigricans	true	Inferred relationship	Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Finding site	Structure of integumentary system	true	Inferred relationship	Existential restriction modifier	2
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	5

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
3983331015	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3983332010	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3983333017	SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module