771182002: Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Thumb deformity, alopecia, pigmentation anomaly syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Thumb deformity, alopecia, pigmentation anomaly syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Degenerative disorder\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Thumb deformity, alopecia, pigmentation anomaly syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Thumb deformity, alopecia, pigmentation anomaly syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704790014 Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3704791013 Thumb deformity, alopecia, pigmentation anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

4213655014 Sparse hair, short stature, skin anomalies syndrome en Synonym Active Case insensitive SNOMED CT core

3704792018 A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thumb deformity, alopecia, pigmentation anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Thumb deformity, alopecia, pigmentation anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Thumb deformity, alopecia, pigmentation anomaly syndrome	Associated morphology	Hyperpigmentation	true	Inferred relationship	Some	2
Thumb deformity, alopecia, pigmentation anomaly syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Genetic disorder of skin pigmentation	false	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Congenital alopecia	true	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Hypoplasia of thumb	true	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Inherited cutaneous hyperpigmentation	true	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Thumb deformity, alopecia, pigmentation anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Thumb deformity, alopecia, pigmentation anomaly syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Thumb deformity, alopecia, pigmentation anomaly syndrome	Finding site	Thumb structure	true	Inferred relationship	Some	3
Thumb deformity, alopecia, pigmentation anomaly syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3704790014	Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3704791013	Thumb deformity, alopecia, pigmentation anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4213655014	Sparse hair, short stature, skin anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3704792018	A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Case sensitive	SNOMED CT core