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, behaviour and/or psychosocial function finding\Behaviour 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\Intellectual ability - finding\Intellectual disability\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachymorphism with onychodysplasia and dysphalangism syndrome
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321288010 Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321289019 Brachymorphism with onychodysplasia and dysphalangism syndrome en Synonym Active Case insensitive SNOMED CT core

3321290011 Senior syndrome en Synonym Active Case sensitive SNOMED CT core

3321291010 BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome en Synonym Active Case sensitive SNOMED CT core

3321292015 A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321288010	Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321289019	Brachymorphism with onychodysplasia and dysphalangism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321290011	Senior syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321291010	BOD (brachymorphism, onychodysplasia, dysphalangism) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321292015	A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	en	Definition	Active	Case sensitive	SNOMED CT core