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2965006: Congenital alopecia (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia

\Alopecia (disorder)\Congenital alopecia

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\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 anomaly of hair\Congenital alopecia

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia (disorder)\Congenital alopecia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital alopecia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital alopecia	Is a	Malformation or hamartoma of pilosebaceous apparatus	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Is a	Congenital anomaly of hair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Is a	Alopecia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Is a	Atrichia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital alopecia	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Finding site	Hair structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital alopecia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital alopecia	Finding site	Hair structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital alopecia	Is a	Congenital absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital alopecia	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital alopecia	Finding site	Hair structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital alopecia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital alopecia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital alopecia	Is a	Disorder of hair growth (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Is a	Aplasia of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital localised alopecia	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia with keratin cysts (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital generalized alopecia	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Total congenital alopecia	Is a	False	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia, unspecified	Is a	False	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Vertical alopecia (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Sutural alopecia (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Triangular alopecia (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Atrichia congenita	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroidal atrophy and alopecia syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Scholte syndrome	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Gomez Lopez Hernandez syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Odonto onycho dysplasia with alopecia syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	Is a	False	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of eyelash	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Is a	True	Congenital alopecia	Inferred relationship	Existential restriction modifier (core metadata concept)
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome	Is a	True	Congenital alopecia	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
6029017	Congenital alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6030010	Congenital atrichosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484349013	Naevoid congenital alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484350013	Nevoid congenital alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760568018	Congenital alopecia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6029017	Congenital alopecia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6029017	Congenital alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6030010	Congenital atrichosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6030010	Congenital atrichosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6031014	Atrichia congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484349013	Naevoid congenital alopecia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484349013	Naevoid congenital alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484350013	Nevoid congenital alopecia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484350013	Nevoid congenital alopecia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760568018	Congenital alopecia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
760568018	Congenital alopecia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
958051000195118	alopecia congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
422131000274112	Diffuse angeborene Alopezie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
662281000274113	Diffuse kongenitale Alopezie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
663391000274113	Undifferenzierte kongenitale Alopezie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4398271000241113	alopécie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4398271000241113	alopécie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
958051000195118	alopecia congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
422131000274112	Diffuse angeborene Alopezie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
662281000274113	Diffuse kongenitale Alopezie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
663391000274113	Undifferenzierte kongenitale Alopezie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module