239035009: Ectodermal dysplasia with hair-nail defect (disorder)

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

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect

\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect

\General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\General finding of soft tissue\Skin finding (finding)\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\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 nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\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 nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\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 nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\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 nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\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 nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\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\Ectodermal dysplasia with hair-nail defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect

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

Descriptions:

Id Description Lang Type Status Case? Module

358219010 Ectodermal dysplasia with hair-nail defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

627996018 Ectodermal dysplasia with hair-nail defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1487331000005112 Ektodermal dysplasi med hår-negledefekt da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia with hair-nail defect	Is a	Ectodermal dysplasia	false	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Occurrence	Congenital	false	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Finding site	Skin structure	false	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Is a	Congenital anomaly of nail	false	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Occurrence	Congenital	false	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Occurrence	Congenital	false	Inferred relationship	Some	5
Ectodermal dysplasia with hair-nail defect	Associated morphology	dysgenese	false	Inferred relationship	Some	5
Ectodermal dysplasia with hair-nail defect	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	5
Ectodermal dysplasia with hair-nail defect	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Finding site	Neglestruktur	false	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Finding site	Skin structure	false	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Finding site	Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate.	true	Inferred relationship	Some	2
Ectodermal dysplasia with hair-nail defect	Is a	Disorder of nail (disorder)	false	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Ectodermal dysplasia with hair-nail defect	Is a	Ectodermal dysplasia with nail defect	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tricho-oculodermovertebral syndrome	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	Is a	False	Ectodermal dysplasia with hair-nail defect	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	False	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia.	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Is a	True	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Is a	True	Ectodermal dysplasia with hair-nail defect	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	Ectodermal dysplasia with hair-nail defect	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358219010	Ectodermal dysplasia with hair-nail defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627996018	Ectodermal dysplasia with hair-nail defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1487331000005112	Ektodermal dysplasi med hår-negledefekt	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)