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122811000119101: Partial androgen insensitivity syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3011407015 Partial androgen insensitivity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3011634013 Partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789630016 Reifenstein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3789631017 Familial incomplete male pseudohermaphroditism type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789632012 PAIS - partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5283597014 Partial androgen resistance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5283601014 A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5283602019 A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3011407015 Partial androgen insensitivity syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3011407015 Partial androgen insensitivity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3011634013 Partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3011634013 Partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789630016 Reifenstein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3789631017 Familial incomplete male pseudohermaphroditism type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789632012 PAIS - partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5283597014 Partial androgen resistance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5283601014 A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5283602019 A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429941001000111 Androgen-Insensivitäts-Syndrom, partielles de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907481000172117 PAIS - partial androgen insensitivity syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005241000172113 syndrome d'insensibilité partielle aux androgènes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907481000172117 PAIS - partial androgen insensitivity syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005241000172113 syndrome d'insensibilité partielle aux androgènes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429941001000111 Androgen-Insensivitäts-Syndrom, partielles de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial androgen insensitivity syndrome (disorder) Is a A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). true Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial androgen insensitivity syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial androgen insensitivity syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial androgen insensitivity syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a Male pseudohermaphroditism true Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Finding site External genitalia structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial androgen insensitivity syndrome (disorder) Is a Reproductive system hereditary disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial androgen insensitivity syndrome (disorder) Is a Congenital anomaly of endocrine gonad (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial androgen insensitivity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial androgen insensitivity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial androgen insensitivity syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder) Is a X-linked recessive hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Mild androgen insensitivity syndrome Is a True Partial androgen insensitivity syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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