720573009: Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Skin AND/OR mucosa finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Skin AND/OR mucosa finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome

\Disease\Genetic disease\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Brachymorphism with onychodysplasia and dysphalangism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3321288010 Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3321289019 Brachymorphism with onychodysplasia and dysphalangism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3321290011 Senior syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3321291010 BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Congenital anomaly of nail	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Brachymorphism with onychodysplasia and dysphalangism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Brachymorphism with onychodysplasia and dysphalangism syndrome	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Brachymorphism with onychodysplasia and dysphalangism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Brachymorphism with onychodysplasia and dysphalangism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Brachymorphism with onychodysplasia and dysphalangism syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Existential restriction modifier	4
Brachymorphism with onychodysplasia and dysphalangism syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	4
Brachymorphism with onychodysplasia and dysphalangism syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Brachymorphism with onychodysplasia and dysphalangism syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Brachymorphism with onychodysplasia and dysphalangism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachymorphism with onychodysplasia and dysphalangism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachymorphism with onychodysplasia and dysphalangism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachymorphism with onychodysplasia and dysphalangism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachymorphism with onychodysplasia and dysphalangism syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	2
Brachymorphism with onychodysplasia and dysphalangism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Brachymorphism with onychodysplasia and dysphalangism syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	2
Brachymorphism with onychodysplasia and dysphalangism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Brachymorphism with onychodysplasia and dysphalangism syndrome	Finding site	Nail unit structure	true	Inferred relationship	Existential restriction modifier	3
Brachymorphism with onychodysplasia and dysphalangism syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Genetic disorder of nail	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4
Brachymorphism with onychodysplasia and dysphalangism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Brachymorphism with onychodysplasia and dysphalangism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Brachymorphism with onychodysplasia and dysphalangism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Brachymorphism with onychodysplasia and dysphalangism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Brachymorphism with onychodysplasia and dysphalangism syndrome	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier

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
3321288010	Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3321289019	Brachymorphism with onychodysplasia and dysphalangism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3321290011	Senior syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3321291010	BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module