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723830005: Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3426322013 Keratosis follicularis, dwarfism, cerebral atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426323015 Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403173012 A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403174018 A rare, genetic, developmental defect during embryogenesis syndrome characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426322013 Keratosis follicularis, dwarfism, cerebral atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426323015 Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426320017 Syndrome that is characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalised alopecia and microcephaly were also present. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426321018 Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403173012 A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403174018 A rare, genetic, developmental defect during embryogenesis syndrome characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3416131001000115 Keratosis follicularis-Kleinwuchs-Hirnatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957131000172119 syndrome de kératose folliculaire-nanisme-atrophie cérébrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957131000172119 syndrome de kératose folliculaire-nanisme-atrophie cérébrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416131001000115 Keratosis follicularis-Kleinwuchs-Hirnatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Darier disease false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Cerebral atrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Associated morphology Atrophy false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Associated morphology Follicular hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Finding site Hair follicle structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Disorder of skin appendage false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Congenital anomaly of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Hereditary acantholytic dermatosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Associated morphology Acantholysis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Associated morphology Follicular hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Finding site Hair follicle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Anomalies of cerebrum false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Hair follicle disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Functional finding false Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Follicular keratosis true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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