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 keratinisation\Disorder of keratinisation\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 keratinisation\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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 keratinisation\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Achondrogenesis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

3983332010 Severe achondroplasia, developmental delay, acanthosis nigricans syndrome en Synonym Active Case insensitive SNOMED CT core

3983333017 SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome en Synonym Active Case sensitive SNOMED CT core

3983334011 Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). en Definition Active Case sensitive SNOMED CT core

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	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Developmental delay	true	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Functional finding	false	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Acanthosis nigricans	true	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Finding site	Structure of integumentary system	true	Inferred relationship	Some	2
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Some	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	4
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3983331015	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3983332010	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3983333017	SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3983334011	Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	en	Definition	Active	Case sensitive	SNOMED CT core