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403781006: Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
1782791014 PIBIDS syndrome, photosensitivity with IBIDS en Synonym Active Entire term case sensitive SNOMED CT core module
2973045014 Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
2973263016 Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Is a Genetic defect of hair shaft false Inferred relationship Existential restriction modifier
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair structure false Inferred relationship Existential restriction modifier
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair structure false Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure false Inferred relationship Existential restriction modifier 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Is a Trichothiodystrophy true Inferred relationship Existential restriction modifier
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure true Inferred relationship Existential restriction modifier 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Defect true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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