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\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\Congenital alopecia
\Disorder of skin (disorder)\Congenital anomaly of skin\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\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\Congenital alopecia
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\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\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\Congenital anomaly of hair\Congenital alopecia

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\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\Congenital alopecia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\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\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\Congenital alopecia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia

\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia
\Disease\Disorder of body system\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
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia
\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 anomaly of hair\Congenital alopecia
\Disease\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\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	Some
Congenital alopecia	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Congenital alopecia	Is a	Alopecia	true	Inferred relationship	Some
Congenital alopecia	Is a	Atrichia	false	Inferred relationship	Some
Congenital alopecia	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital alopecia	Finding site	Hair structure	false	Inferred relationship	Some
Congenital alopecia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital alopecia	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Congenital alopecia	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital alopecia	Finding site	Skin structure	false	Inferred relationship	Some
Congenital alopecia	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital alopecia	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Congenital alopecia	Is a	Congenital absence	false	Inferred relationship	Some
Congenital alopecia	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital alopecia	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital alopecia	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Congenital alopecia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital alopecia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital alopecia	Is a	Disorder of hair growth	false	Inferred relationship	Some
Congenital alopecia	Is a	Aplasia of skin (disorder)	false	Inferred relationship	Some
Congenital alopecia	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital localised alopecia	Is a	True	Congenital alopecia	Inferred relationship	Some
Congenital alopecia with keratin cysts (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Some
Congenital generalised alopecia	Is a	True	Congenital alopecia	Inferred relationship	Some
Total congenital alopecia	Is a	False	Congenital alopecia	Inferred relationship	Some
Congenital alopecia, unspecified	Is a	False	Congenital alopecia	Inferred relationship	Some
Vertical alopecia (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Some
Sutural alopecia (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Some
Triangular alopecia (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Some
Atrichia congenita (disorder)	Is a	True	Congenital alopecia	Inferred relationship	Some
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	Is a	True	Congenital alopecia	Inferred relationship	Some
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	Some
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	Is a	True	Congenital alopecia	Inferred relationship	Some
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	Some
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.	Is a	True	Congenital alopecia	Inferred relationship	Some
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	Is a	True	Congenital alopecia	Inferred relationship	Some
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Is a	True	Congenital alopecia	Inferred relationship	Some
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized 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	Some
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	Is a	True	Congenital alopecia	Inferred relationship	Some
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital alopecia	Inferred relationship	Some
A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis.	Is a	True	Congenital alopecia	Inferred relationship	Some
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	Is a	True	Congenital alopecia	Inferred relationship	Some
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.	Is a	True	Congenital alopecia	Inferred relationship	Some
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	Some
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.	Is a	True	Congenital alopecia	Inferred relationship	Some
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.	Is a	True	Congenital alopecia	Inferred relationship	Some
A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	Is a	True	Congenital alopecia	Inferred relationship	Some
Congenital absence of eyelash	Is a	True	Congenital alopecia	Inferred relationship	Some
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Is a	True	Congenital alopecia	Inferred relationship	Some
A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.	Is a	True	Congenital alopecia	Inferred relationship	Some

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
958051000195118	alopecia congenita	it	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
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