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\Skin hypopigmented\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\Skin hypopigmented\Congenital deficiency of pigment of skin\Piebald trait with neurologic defects syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Intellectual ability - finding\Intellectual disability\Piebald trait with neurologic defects syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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\Skin hypopigmented\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 anomaly\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\Skin hypopigmented\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\Skin hypopigmented\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 anomaly\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, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3727467015 Piebald trait with neurologic defects syndrome en Synonym Active Case insensitive SNOMED CT core

3727468013 Piebald trait with neurologic defects syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3727469017 Telfer Sugar Jaeger syndrome en Synonym Active Case sensitive SNOMED CT core

3727140016 A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. en Definition Active Case sensitive SNOMED CT core

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	Some
Piebald trait with neurologic defects syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Piebald trait with neurologic defects syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Piebald trait with neurologic defects syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Piebald trait with neurologic defects syndrome	Associated morphology	Hypopigmentation	true	Inferred relationship	Some	1
Piebald trait with neurologic defects syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Piebald trait with neurologic defects syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Piebald trait with neurologic defects syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
Piebald trait with neurologic defects syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Piebald trait with neurologic defects syndrome	Is a	Hereditary disorder of the integument	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
3727467015	Piebald trait with neurologic defects syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3727468013	Piebald trait with neurologic defects syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3727469017	Telfer Sugar Jaeger syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3727140016	A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.	en	Definition	Active	Case sensitive	SNOMED CT core