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1208985003: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5013853012 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013854018 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013855017 RHOA (ras homolog family member A) related mosaic ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013856016 RHOA-related mosaic ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399890010 A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399891014 A rare ectodermal dysplasia syndrome characterised by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013853012 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013854018 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5013855017 RHOA (ras homolog family member A) related mosaic ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013856016 RHOA-related mosaic ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013859011 A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013860018 A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399890010 A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399891014 A rare ectodermal dysplasia syndrome characterised by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396791001000111 Lineare Hypopigmentierung und kraniofaziale Asymmetrie mit Akren-, Augen- und Gehirnanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396791001000111 Lineare Hypopigmentierung und kraniofaziale Asymmetrie mit Akren-, Augen- und Gehirnanomalien 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
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a Congenital deficiency of pigment of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a Congenital hypotrichia true Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a Genetic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology Hypopigmentation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a Genetic disorder of skin pigmentation (disorder) 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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