205564003: Congenital pigmentary skin anomalies (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\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\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\Congenital pigmentary skin anomalies
\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 (disorder)\Congenital pigmentary skin anomalies

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies

\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\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 (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of tongue	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Congenital heart disease	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Jaw region structure	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Occurrence	Congenital	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Esophagus, stomach, and duodenum.	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Heart structure	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Tongue structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Structure of cardiovascular system subdivision (body structure)	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Congenital pigmentary skin anomalies	Associated morphology	Pigment alteration	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital pigmentary skin anomalies	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	3
Congenital pigmentary skin anomalies	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Associated morphology	Pigment alteration	true	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	true	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital pigmentary skin anomaly NOS	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Congenital deficiency of pigment of skin	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells.	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hereditary benign acanthosis nigricans	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hereditary benign acanthosis nigricans with insulin resistance	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hypotrichosis with keratosis pilaris and lentiginosis	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Centrofacial lentiginosis syndrome	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Neurocutaneous melanosis sequence	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
McCune Albright syndrome (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Birthmark	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Dermal melanocytic hamartoma (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
315243010	Congenital pigmentary skin anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590950015	Congenital pigmentary skin anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2475672012	Congenital pigmentary anomaly of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1830191000195119	anomalie cutanee del pigmento congenite	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
111761000172114	anomalies congénitales de pigmentation de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
425841000274119	Angeborene Pigmentstörung	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module