1953005: Congenital deficiency of pigment of skin (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin

\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation\Skin hypopigmented\Congenital deficiency of pigment of skin
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deficiency of pigment of skin	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Is a	Congenital pigmentary anomaly of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Is a	Skin hypopigmented	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital deficiency of pigment of skin	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital deficiency of pigment of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital deficiency of pigment of skin	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Is a	Congenital pigmentary skin anomalies	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deficiency of pigment of skin	Associated morphology	Hypopigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Albinism	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital oculocutaneous hypopigmentation	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypopigmentation-immunodeficiency disease	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
albinoïdisme	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocutaneous albinism	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder)	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Deaf blind hypopigmentation syndrome Yemenite type	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	False	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Piebald trait with neurologic defects syndrome (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Phylloid hypomelanosis	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)	Is a	True	Congenital deficiency of pigment of skin	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4374015	Congenital deficiency of pigment of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747753014	Congenital deficiency of pigment of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4374015	Congenital deficiency of pigment of skin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4374015	Congenital deficiency of pigment of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747753014	Congenital deficiency of pigment of skin (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
747753014	Congenital deficiency of pigment of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4393601000241113	hypopigmentation congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4393601000241113	hypopigmentation congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module