773984007: Piebald trait with neurologic defects 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\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Piebald trait with neurologic defects syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects 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 pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Piebald trait with neurologic defects syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Piebald trait with neurologic defects syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Piebald trait with neurologic defects syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Piebald trait with neurologic defects syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Piebald trait with neurologic defects syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Piebald trait with neurologic defects syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Piebald trait with neurologic defects syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Piebald trait with neurologic defects syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3727467015 Piebald trait with neurologic defects syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3727468013 Piebald trait with neurologic defects syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3727469017 Telfer Sugar Jaeger syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Piebald trait with neurologic defects syndrome	Is a	Congenital deficiency of pigment of skin	true	Inferred relationship	Existential restriction modifier
Piebald trait with neurologic defects syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Piebald trait with neurologic defects syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Piebald trait with neurologic defects syndrome	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Existential restriction modifier
Piebald trait with neurologic defects syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Piebald trait with neurologic defects syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Piebald trait with neurologic defects syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Piebald trait with neurologic defects syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier	1
Piebald trait with neurologic defects syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Piebald trait with neurologic defects syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Piebald trait with neurologic defects syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Piebald trait with neurologic defects syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Piebald trait with neurologic defects syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Piebald trait with neurologic defects syndrome	Is a	Hereditary disorder of the integument	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
3727467015	Piebald trait with neurologic defects syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3727468013	Piebald trait with neurologic defects syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3727469017	Telfer Sugar Jaeger syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module